Phenotype #0000104105

Individual ID	00131888
Associated disease	PCH
Phenotype details	Born 37w (weight 1.6 kg, length 48 cm, HC 32 cm); last examination 4y (weight 14.5 kg(-0.79 SD), length 103 cm(+0.50 SD), HC 43.5 cm(-3.96 SD)) generalized weakness (HP:0003324); delayed gross motor, can walk alone (HP:0002194); delayed fine motor (HP:0010862); delayed language (HP:0000750); delayed social (HP:0012434); truncal ataxia (HP:0002078); appendicular ataxia (HP:0002070); non-ambulatory(HP:0002540); muscular hypotonia (HP:0001252); hyporeflexia (HP:0001265); strabismus (HP:0000486); recurrent respiratory infections (HP:0002205); hypoplasia of labia minora (HP:0000064)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	04y (4 years)
Age/Onset	?
Phenotype/Onset	-
Protein	-
Owner name	Thymo van Camerijk
Database submission license	No license selected
Created by	Thymo van Camerijk
Date created	2017-09-25 14:56:01 +02:00 (CEST)
Date last edited	2017-10-02 22:21:54 +02:00 (CEST)